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March 20, 2024Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseOpen Access

Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy

Shir Quinn Nan Zhang Timothy A. Fenton Marina Brusel Preethi Muruganandam Yoav Peleg Moshe Giladi Yoni Haitin Holger Lerche Haim Bassan Yuanyuan Liu Roy Ben‐Shalom Moran Rubinstein

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Abstract

Mutations in the SCN8A gene, encoding the voltage-gated sodium channel Na

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Quinn et al. (2024) studied this question.

synapsesocial.com/papers/68e732bfb6db6435876abd38 https://doi.org/10.1016/j.bbadis.2024.167127

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Complex biophysical changes and reduced neuronal firing in an <i>SCN8A</i> variant associated with developmental delay and epilepsypreclinical · 2023
2Sodium channel mutations in epilepsy and other neurological disordersOriginal Research · 2005 · 512 citations
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4Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disabilitypreclinical · 2018 · 118 citations
5Molecular and Cellular Context Influences SCN8A Variant Functionpreclinical · 2023 · 24 citations

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